Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report
| Autor: | Vanessa R Alves, Artur Dzik, Aline Dt Lima, Andressa R Rocha, Ana Carolina Nogueira Martinhago, Luiz Henrique Gebrim, Ciro Dresch Martinhago, Nilka Donadio, Mario Cavagna |
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| Rok vydání: | 2017 |
| Předmět: |
Adult
Male endocrine system endocrine system diseases Biopsy medicine.medical_treatment Case Report 030209 endocrinology & metabolism Fertilization in Vitro Human reproduction Preimplantation genetic diagnosis Intracytoplasmic sperm injection Germline Cancer syndrome Andrology 03 medical and health sciences 0302 clinical medicine Pregnancy Multiple Endocrine Neoplasia Type 1 medicine Humans Endocrine system multiple endocrine neoplasia MEN1 Genetic Testing Sperm Injections Intracytoplasmic Multiple endocrine neoplasia preimplantation genetic diagnosis Preimplantation Diagnosis business.industry Embryo medicine.disease Pedigree Blastocyst 030220 oncology & carcinogenesis Female embryo biopsy business |
| Zdroj: | JBRA Assisted Reproduction |
| ISSN: | 1518-0557 |
| DOI: | 10.5935/1518-0557.20180010 |
| Popis: | Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring. |
| Databáze: | OpenAIRE |
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